Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.Q57Q
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PTPN11

NM_002834.5:p.Q57Q

Associated Papers

Alanine scanning mutagenesis of a high-affinity nitrate transporter highlights the requirement for glycine and asparagine residues in the two nitrate signature motifs.

Unkles SE et al.

The Biochemical Journal, 2012

Mutation analysis of NR0B2 among 1545 Danish men identifies a novel c.278G>A (p.G93D) variant with reduced functional activity.

Echwald SM et al.

Human Mutation, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."